12/22/2025
Infant Cured of Previously Incurable Disease with Gene Therapy
I’ve written about gene therapy in the past. Two years ago, I posted an article about the first FDA approved therapies to treat sickle cell disease. These therapies are aimed at preventing the severe complications of sickling and work by altering the hemoglobin inside red blood cells. For sickle cell, the therapy is ex vivo, the cells are edited outside the body and then returned.
A lot has happened in the field of gene therapy in the last two years. This year, gene therapy has become more personal, quicker to develop, and it is done in vivo, with the editing infused directly into the patient.
Earlier this year, an infant with a previously incurable and deadly genetic defect was cured by personalized gene therapy treatment. The infant was diagnosed with carbamoyl phosphate synthetase 1 (CPS1) deficiency. This enzyme is required to detoxify the byproducts of protein metabolism. Without CPS1, ammonia levels climb causing severe damage to the liver and brain.
Treatment of CPS1 deficiency includes a low protein diet until old enough for a liver transplant. While waiting, however, there is a significant risk of organ failure, brain swelling, irreversible brain damage, coma and death.
One of the most amazing aspects of this treatment is the speed with which it was administered. The in vivo CRISPR therapy was developed and delivered in just six months. This opens the door for early intervention for genetic diseases that lead to rapid decline early in life.
https://www.sanfranciscoplasticsurgeryblog.com/infant-cured-of-previously-incurable-disease-with-gene-therapy/
